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Found 9 result(s)

Alzheimer Disease & Frontotemporal Dementia Mutation Database

AD & FTD Mutation Database

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<<<!!!<<< This repository is no longer available. >>>!!!>>>

Androgen Receptor Mutations Database

AR Gene Mutations Database

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Androgen Receptor Gene Mutations Database is for all who are interested in mutations of the Androgen Receptor Gene. In light of the difficulty in getting new AR mutations published the curator will now accept new mutations that have not been published, provided that it is from a reputable research or clinical laboratory. The curator also strongly suggests that where possible, particularly in the case of new unique mutations that an attempt be made to at least confirm the pathogenicity of the putatative mutation, by showing that the mutation when transfected into a suitable expression system produces a mutant androgen receptor protein.

Parkinson Disease Mutation Database

PDmutDB

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<<<!!!<<< This repository is no longer available. >>>!!!>>>

The Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database

The Lafora Database

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A curated database of mutations and polymorphisms associated with Lafora Progressive Myoclonus Epilepsy. The Lafora progressive myoclonus epilepsy mutation and polymorphism database is a collection of hand curated mutation and polymorphism data for the EPM2A and EPM2B (NHLRC1) from publicly available literature: databases and unpublished data. The database is continuously updated with information from in-house experimental data as well as data from published research studies.

The Global Proteome Machine

GPM

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The Global Proteome Machine (GPM) is a protein identification database. This data repository allows users to post and compare results. GPM's data is provided by contributors like The Informatics Factory, University of Michigan, and Pacific Northwestern National Laboratories. The GPM searchable databases are: GPMDB, pSYT, SNAP, MRM, PEPTIDE and HOT.

Clinical Genomic Database

CGD

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Clinical Genomic Database (CGD) is a manually curated database of conditions with known genetic causes, focusing on medically significant genetic data with available interventions.

Phenylalanine Hydroxylase Locus Knowledgebase

PAHdb

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<<<!!!<<< This repository is no longer available. >>>!!!>>>

International Mouse Strain Resource

IMSR

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The IMSR is a searchable online database of mouse strains, stocks, and mutant ES cell lines available worldwide, including inbred, mutant, and genetically engineered strains. The goal of the IMSR is to assist the international scientific community in locating and obtaining mouse resources for research. Note that the data content found in the IMSR is as supplied by strain repository holders. For each strain or cell line listed in the IMSR, users can obtain information about: Where that resource is available (Repository Site); What state(s) the resource is available as (e.g. live, cryopreserved embryo or germplasm, ES cells); Links to descriptive information about a strain or ES cell line; Links to mutant alleles carried by a strain or ES cell line; Links for ordering a strain or ES cell line from a Repository; Links for contacting the Repository to send a query

The Monarch Initiative

Monarch Initiative

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As with most biomedical databases, the first step is to identify relevant data from the research community. The Monarch Initiative is focused primarily on phenotype-related resources. We bring in data associated with those phenotypes so that our users can begin to make connections among other biological entities of interest. We import data from a variety of data sources. With many resources integrated into a single database, we can join across the various data sources to produce integrated views. We have started with the big players including ClinVar and OMIM, but are equally interested in boutique databases. You can learn more about the sources of data that populate our system from our data sources page https://monarchinitiative.org/about/sources.